Variant #0000000448 (NC_000021.8:g.33032095G>T, SOD1(NM_000454.4):c.13G>T)
Individual ID |
00000448 |
Chromosome |
21 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.33032095G>T |
Reference |
Sato T1, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T, Shimizu A, Sakoda S.(2005) |
DB-ID |
SOD1_000023 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
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Gene |
SOD1 |
Transcript ID |
NM_000454.4 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Exon |
1 |
DNA change (cDNA) |
c.13G>T |
RNA change |
r.(?) |
Protein |
p.(Ala5Ser) |
Variant/VariO/DNA |
VariO:0136 DNA substitution; VariO:0316 transversion |
Variant/VariO/protein |
VariO:0021 amino acid substitution |
Variant on transcripts
Screenings
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